Varaico: Literature-Extracted Genetic Variants

Gene:ATG4D
Variant:p.S89N
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ATG4D

NM_032885.6:p.S89N

Associated Papers

Last but not least: emerging roles of the autophagy-related protein ATG4D.

McMann E et al.

Autophagy, 2024

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

Morimoto M et al.

Npj Genomic Medicine, 2023

ATG4D is the main ATG8 delipidating enzyme in mammalian cells and protects against cerebellar neurodegeneration.

Tamargo-Gómez I et al.

Cell Death and Differentiation, 2021

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › rd1_f40r3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."